PIK3R1

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Phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
Protein PIK3R1 PDB 1bfi.png
PDB rendering based on 1bfi.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols PIK3R1 ; AGM7; GRB1; p85; p85-ALPHA
External IDs OMIM171833 HomoloGene7889 ChEMBL: 2506 GeneCards: PIK3R1 Gene
RNA expression pattern
PBB GE PIK3R1 212240 s at tn.png
PBB GE PIK3R1 212249 at tn.png
PBB GE PIK3R1 212239 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5295 18708
Ensembl ENSG00000145675 ENSMUSG00000041417
UniProt P27986 P26450
RefSeq (mRNA) NM_001242466 NM_001024955
RefSeq (protein) NP_001229395 NP_001020126
Location (UCSC) Chr 5:
67.51 – 67.6 Mb
Chr 13:
101.68 – 101.77 Mb
PubMed search [1] [2]

Phosphatidylinositol 3-kinase regulatory subunit alpha is an enzyme that in humans is encoded by the PIK3R1 gene.[1]

Function[edit]

Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in three transcript variants encoding different isoforms.[2]

Clinical significance[edit]

Mutations in PIK3R1 are implicated in cases of breast cancer .[3]

Mutations in PIK3R1 are associated to SHORT syndrome .[4]

Interactions[edit]

PIK3R1 has been shown to interact with:


References[edit]

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  2. ^ "Entrez Gene: PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (p85 alpha)". 
  3. ^ The Cancer Genome Atlas Network (October 2012). "Comprehensive molecular portraits of human breast tumours". Nature 490 (7418): 61–70. doi:10.1038/nature11412. PMC 3465532. PMID 23000897. 
  4. ^ Bárcena, C; Quesada, V; De Sandre-Giovannoli, A; Puente, D. A.; Fernández-Toral, J; Sigaudy, S; Baban, A; Lévy, N; Velasco, G; López-Otín, C (2014). "Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome". BMC Medical Genetics 15 (1): 51. doi:10.1186/1471-2350-15-51. PMC 4022398. PMID 24886349.  edit
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Further reading[edit]

  • Benito M, Valverde AM, Lorenzo M (1996). "IGF-I: a mitogen also involved in differentiation processes in mammalian cells". Int. J. Biochem. Cell Biol. 28 (5): 499–510. doi:10.1016/1357-2725(95)00168-9. PMID 8697095. 
  • Snapper SB, Rosen FS (1999). "The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization". Annu. Rev. Immunol. 17: 905–29. doi:10.1146/annurev.immunol.17.1.905. PMID 10358777. 
  • Katada T, Kurosu H, Okada T, et al. (1999). "Synergistic activation of a family of phosphoinositide 3-kinase via G-protein coupled and tyrosine kinase-related receptors". Chem. Phys. Lipids 98 (1–2): 79–86. doi:10.1016/S0009-3084(99)00020-1. PMID 10358930. 
  • Zhang W, Samelson LE (2000). "The role of membrane-associated adaptors in T cell receptor signalling". Semin. Immunol. 12 (1): 35–41. doi:10.1006/smim.2000.0205. PMID 10723796. 
  • Greenway AL, Holloway G, McPhee DA, et al. (2004). "HIV-1 Nef control of cell signalling molecules: multiple strategies to promote virus replication". J. Biosci. 28 (3): 323–35. doi:10.1007/BF02970151. PMID 12734410. 
  • Leavitt SA, SchOn A, Klein JC, et al. (2004). "Interactions of HIV-1 proteins gp120 and Nef with cellular partners define a novel allosteric paradigm". Curr. Protein Pept. Sci. 5 (1): 1–8. doi:10.2174/1389203043486955. PMID 14965316. 
  • Joseph AM, Kumar M, Mitra D (2005). "Nef: "necessary and enforcing factor" in HIV infection". Curr. HIV Res. 3 (1): 87–94. doi:10.2174/1570162052773013. PMID 15638726.